Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases Research, the Genetic and Rare
Diseases Information Center, or the National Human Genome Research Institute;
or (2) diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to
have a prevalence of fewer than 200,000 affected individuals in the United
States. Certain diseases with 200,000 or more affected individuals may be
included in this list if certain subpopulations of people who have the disease
are equal to the prevalence standard for rare diseases. We welcome suggestions
for additions to or deletions from the list. Your recommendations may be sent
via e-mail to ord@od.nih.gov
The Genetic and Rare Diseases Information Center has posted questions from the
public for the terms in bold. Click on the term to view the list of
questions in the "Questions & Answers" section.
Browse by Condition
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I cell disease
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IBIDS syndrome
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ICF syndrome
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Ichthyosiform erythroderma, corneal involvement, deafness
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Ichthyosis alopecia eclabion ectropion mental retardation
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Ichthyosis and male hypogonadism
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Ichthyosis bullosa of Siemens
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Ichthyosis cheek eyebrow syndrome
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Ichthyosis congenita biliary atresia
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Ichthyosis deafness mental retardation skeletal anomaly
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Ichthyosis follicularis atrichia photophobia syndrome
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Ichthyosis hystrix gravior
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Ichthyosis hystrix, Curth Macklin type
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Ichthyosis lamellar 1
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Ichthyosis lamellar 2
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Ichthyosis lamellar 3
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Ichthyosis lamellar, autosomal dominant
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Ichthyosis linearis circumflexa
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Ichthyosis mental retardation dwarfism renal impairment
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Ichthyosis prematurity syndrome
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Ichthyosis tapered fingers midline groove up
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Ichthyosis vulgaris
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Ichthyosis with hypotrichosis, autosomal recessive
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Ichthyosis, acquired
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Ichthyosis, erythrokeratolysis hemalis
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Ichthyosis, follicular
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Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
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Ichthyosis, mental retardation, dwarfism and renal impairment
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Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
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Idiopathic acute eosinophilic pneumonia
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Idiopathic adolescent scoliosis
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Idiopathic alveolar hypoventilation syndrome
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Idiopathic basal ganglia calcification childhood-onset
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Idiopathic diffuse interstitial fibrosis
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Idiopathic dilatation of the pulmonary artery
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Idiopathic double athetosis
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Idiopathic eosinophilic chronic pneumopathy
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Idiopathic juxtafoveal retinal telangiectasia
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Idiopathic myopathy
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Idiopathic pulmonary fibrosis
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Idiopathic pulmonary hemosiderosis
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Idiopathic pulmonary hypertension
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Idiopathic spinal cord herniation
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Idiopathic subglottic tracheal stenosis
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Idiopathic thrombocytopenic purpura
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Iida Kannari syndrome
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IL12RB1 deficiency
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Illum syndrome
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Imaizumi Kuroki syndrome
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Imerslund-Grasbeck syndrome
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Iminoglycinuria
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Immotile cilia syndrome, due to defective radial spokes
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Immune defect due to absence of thymus
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Immune deficiency, familial variable
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Immune dysfunction with T-cell inactivation due to calcium entry defect 1
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Immune dysfunction with T-cell inactivation due to calcium entry defect 2
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Immune thrombocytopenia
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Immunodeficiency with hyper IgM type 1
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Immunodeficiency with hyper IgM type 2
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Immunodeficiency with hyper IgM type 3
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Immunodeficiency with hyper IgM type 4
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Immunodeficiency with hyper IgM type 5
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Immunodeficiency without anhidrotic ectodermal dysplasia
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Immunodeficiency, microcephaly with normal intelligence
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Immunodysregulation, polyendocrinopathy and enteropathy X-linked
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Immunoglobulin A deficiency 2
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Impairment of oral perception
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Imperforate anus
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Imperforate oropharynx-costo vetebral anomalies
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Inborn amino acid metabolism disorder
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Inborn renal aminoaciduria
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Inclusion body myopathy 2
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Inclusion body myopathy 3
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Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
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Inclusion body myositis
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Inclusion conjunctivitis
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Incontinentia pigmenti
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Indolent B cell lymphoma
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Indomethacin antenatal infection
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Infant epilepsy with migrant focal crisis
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Infantile apnea
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Infantile axonal neuropathy
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Infantile convulsions and paroxysmal choreoathetosis, familial
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Infantile digital fibromatosis
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Infantile free sialic acid storage disease
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Infantile histiocytoid cardiomyopathy
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Infantile myofibromatosis
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Infantile onset spinocerebellar ataxia
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Infantile Parkinsonism-dystonia
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Infantile recurrent chronic multifocal osteomyolitis
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Infantile scoliosis
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Infantile spasms broad thumbs
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Infantile striato thalamic degeneration
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Infantile-onset ascending hereditary spastic paralysis
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Infectious arthritis
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Infectious myocarditis
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Infective endocarditis
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Infective myositis
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Inflammatory breast cancer
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Inflammatory linear verrucous epidermal nevus
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Inflammatory myofibroblastic tumor
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Infundibulopelvic dysgenesis
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Inherited hypoprothrombinemia
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Inherited peripheral neuropathy
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Iniencephaly
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Insulin autoimmune syndrome
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Insulin-like growth factor 1 resistance to
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Insulin-like growth factor I deficiency
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Insulinoma
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Insulin-resistance type B
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Insulin-resistant acanthosis nigricans, type A
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Intellectual deficit - short stature - hypertelorism
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Intellectual deficit Buenos-Aires type
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Intellectual deficit unusual facies talipes hand anomalies
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Intercellular cholesterol esterification disease
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Interferon gamma, receptor 1, deficiency
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Intermediate severe Salla disease
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Internal carotid agenesis
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Intestinal atresia multiple
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Intestinal pseudo-obstruction
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Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
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Intracranial aneurysms multiple congenital anomaly
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Intracranial arteriovenous malformation
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Intrahepatic cholangiocarcinoma
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Intrahepatic cholestasis of pregnancy
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Intraneural perineurioma
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Intraocular melanoma
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Intrathoracic kidney vertebral fusion
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Intrauterine growth retardation - mandibular malar hypoplasia
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Intrauterine growth retardation with increased mitomycin C sensitivity
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Intrauterine infections
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Intravascular papillary endothelial hyperplasia
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Intravenous leiomyomatosis
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Intrinsic factor deficiency
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Iodine antenatal infection
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IRAK4 deficiency
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Iridocorneal endothelial syndrome
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Iridogoniodysgenesis and skeletal anomalies
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Iridogoniodysgenesis type1
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Iridogoniodysgenesis, dominant type
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Iris coloboma with ptosis hypertelorism and mental retardation
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Iris dysplasia hypertelorism deafness
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Iris hypoplasia and glaucoma
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Iron-refractory iron deficiency anemia
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Irons Bhan syndrome
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Isaac's syndrome
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Ischiadic hypoplasia renal dysfunction immunodeficiency
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Isobutyryl-CoA dehydrogenase deficiency
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Isochromosome Yp
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Isodicentric chromosome 15 syndrome
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Isolated ACTH deficiency
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Isolated growth hormone deficiency type 1A
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Isolated growth hormone deficiency type 1B
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Isolated growth hormone deficiency type 2
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Isolated growth hormone deficiency type 3
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Isosporiasis
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Isotretinoin embryopathy like syndrome
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Isovaleric acidemia
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Isthmian coarctation
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ITCH E3 ubiquitin ligase deficiency
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Ivemark syndrome
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IVIC syndrome